A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5997608



Internal ID21906951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53207116..53225335hg38UCSC Ensembl
chr4:54073283..54091502hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3818220
hg1918220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17545274
Samples
Known GenesSCFD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5997608
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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